F142Y (p.Phe142Tyr) variant of MSI1 (O43347)
F142Y (p.Phe142Tyr) in MSI1 (O43347) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F142Y (p.Phe142Tyr) variant details
- p.Phe142Tyr
- ESP rs375673859
- ExAC rs375673859
- TOPMed rs375673859
- gnomAD rs375673859
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available